Search Results - Sass, Jörn Oliver
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Succinyl-CoA:3-oxoacid coenzyme a transferase (SCOT) deficiency: a rare and potentially fatal metabolic disease by Grünert, Sarah (Author) , Foster, William (Author) , Schumann, Anke (Author) , Lund, Allan (Author) , Pontes, Christina (Author) , Roloff, Sylvia (Author) , Weinhold, Natalie (Author) , Yue, Wyatt W. (Author) , AlAsmari, Ali (Author) , Obaid, Osama A. (Author) , Faqeih, Eissa Ali (Author) , Stübbe, Lisa (Author) , Yamamoto, Raina (Author) , Gemperle-Britschgi, Corinne (Author) , Walter, Melanie (Author) , Spiekerkoetter, Ute (Author) , Mackinnon, Sabrina (Author) , Sass, Jörn Oliver (Author) ,
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2
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria by Popek, Manuela (Author) , Walter, Melanie (Author) , Fernando, Malkanthi (Author) , Lindner, Martin (Author) , Schwab, Karl Otfried (Author) , Sass, Jörn Oliver (Author) ,
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A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival by Rauschenberger, Katharina (Author) , Schöler, Katja (Author) , Sass, Jörn Oliver (Author) , Sauer, Sven (Author) , Djuric, Zdenka (Author) , Rumig, Cordula (Author) , Wolf, Nicole I. (Author) , Okun, Jürgen G. (Author) , Kölker, Stefan (Author) , Schwarz, Heinz (Author) , Fischer, Christine (Author) , Grziwa, Beate (Author) , Runz, Heiko (Author) , Nümann, Astrid (Author) , Shafqat, Naeem (Author) , Kavanagh, Kathryn L. (Author) , Hämmerling, Günter J. (Author) , Wanders, Ronald J. A. (Author) , Shield, Julian P. H. (Author) , Wendel, Udo (Author) , Stern, David (Author) , Nawroth, Peter Paul (Author) , Hoffmann, Georg F. (Author) , Bartram, Claus R. (Author) , Arnold, Bernd (Author) , Bierhaus, Angelika (Author) , Oppermann, Udo (Author) , Steinbeisser, Herbert (Author) , Zschocke, Johannes (Author) ,
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4
Dihydropyrimidinase deficiency: phenotype, genotype and structural consequences in 17 patients by Kuilenburg, André van (Author) , Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Benoist, Jean-François (Author) , Assmann, Birgit (Author) , Schubert-Bast, Susanne (Author) , Hoffmann, Georg F. (Author) , Duran, Marinus (Author) , de Vries, Maaike C. (Author) , Kurlemann, Gerd (Author) , Eyskens, François J. M. (Author) , Greed, Lawrence (Author) , Sass, Jörn Oliver (Author) , Schwab, K. Otfried (Author) , Sewell, Adrian C. (Author) , Walter, John (Author) , Hahn, Andreas (Author) , Zoetekouw, Lida (Author) , Ribes, Antonia (Author) , Lind, Suzanne (Author) , Hennekam, Raoul C. M. (Author) ,
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Related Subjects
Acylcarnitines
Crystal structure
Dihydropyrimidinase
ERAB
Functional and structural protein analysis
Glutaric acid
Glutaric aciduria
Glutaryl-coenzyme A dehydrogenase
HSD10
Inborn error of metabolism
Isobutyryl-coenzyme dehydrogenase
Isobutyrylglycine
Isobutyrylglycinuria
Ketoacidosis
Ketolysis
Ketone body utilization
Metabolic acidosis
Neurological and gastrointestinal abnormalities
Newborn screening
Organic acids
Tandem mass spectrometry
apoptosis
gene
neurodegeneration
organic aciduria